How do people inherit Ehlers-Danlos syndrome, Vascular Type?

This condition is inherited in an autosomal dominant pattern, which means only one copy of the altered gene is necessary to cause the disorder. About half of all cases are inherited from a parent who has the condition. The other half of cases occur in people whose families have no history of the disorder. These sporadic cases are caused by new mutations in one copy of the COL3A1 gene. It is important to note that parental somatic mosaicism for COL3A1 mutations has been documented in several families in which two affected individuals have been born to unaffected parents. [Kontusarri et al. 1992]

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Vascular Emergency Information

Vascular Type EDS is considered the most serious form of EDS due to the possibility of arterial or organ rupture. If a patient presents with signs of chest, abdominal pain (etc.) it should be considered a TRAUMA SITUATION. Patient complaints should be immediately investigated using MRA, MRI, or CT-Scan testing — not x-rays.